Grants and Contracts Details
Description
Summary
Even though the genetic basis of RASopathies has been acknowledged for more than a
decade, the development of therapies that radically improve clinical outcomes for RASopathy
patients has not rapidly progressed. Failure to thrive, gain weight, and grow are common
symptoms of RASopathies, but the underlying causes of these symptoms are not known. Our
lab is studying a RASopathy called Noonan syndrome with loose anagen hair (NSLAH), where
patients suffer from delayed development of the gastrointestinal system and perturbations in
metabolic pathways. In these studies, we will use zebrafish as a vertebrate model to investigate
how mutations in the shoc2 gene, found in patients with NSLAH, affect the early stages of
gastrointestinal development and metabolism. Zebrafish offer distinct advantages for
development studies, including their transparency and rapid external development. Thus,
determining how metabolic perturbations affect this clinically relevant model''s growth and
developmental patterns will lead to better treatment for patients with NSLAH. These insights
could identify oral supplements for patients, similar to what recently was identified for congenital
disorders of glycosylation and neonatal hypoxia-ischemia patients. While this work focuses on a
specific RASopathy, our findings will impact other RASopathies where patients present with
similar difficulties to thrive. The proposed work will also establish a foundation for successful
future studies focused on the development of specific strategies for therapeutic approaches
in RASopathies.
Status | Active |
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Effective start/end date | 11/6/24 → 10/31/26 |
Funding
- National Institute of Child Health and Human Develop: $231,000.00
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